C1837657[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2177095	NM_004273.5(CHST3):c.2T>C (p.Met1Thr)	CHST3 (M1T)	Single nucleotide variant (missense variant +1 more)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 282999	NM_004273.5(CHST3):c.7A>G (p.Lys3Glu)	CHST3 (K3E)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GUncertain significance
Select item 1026534	NM_004273.5(CHST3):c.11G>A (p.Gly4Glu)	CHST3 (G4E)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1477983	NM_004273.5(CHST3):c.19T>A (p.Leu7Met)	CHST3 (L7M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2154433	NM_004273.5(CHST3):c.34C>T (p.Arg12Trp)	CHST3 (R12W)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2074484	NM_004273.5(CHST3):c.36G>A (p.Arg12=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2173804	NM_004273.5(CHST3):c.37G>A (p.Asp13Asn)	CHST3 (D13N)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1605353	NM_004273.5(CHST3):c.48C>T (p.His16=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2149422	NM_004273.5(CHST3):c.54G>T (p.Leu18=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1996399	NM_004273.5(CHST3):c.58_77dup (p.Leu26_Phe27insTer)	CHST3	Duplication (nonsense +1 more)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 1176876	NM_004273.5(CHST3):c.72C>T (p.Tyr24=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GLikely benign
Select item 2189368	NM_004273.5(CHST3):c.84_98dup (p.Val32_Ile33insMetValPheValVal)	CHST3	Duplication (inframe_insertion)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2083760	NM_004273.5(CHST3):c.83T>A (p.Leu28Ter)	CHST3 (L28*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 1351695	NM_004273.5(CHST3):c.85G>T (p.Val29Phe)	CHST3 (V29F)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2189372	NM_004273.5(CHST3):c.100G>A (p.Val34Ile)	CHST3 (V34I)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 776518	NM_004273.5(CHST3):c.108C>G (p.Val36=)	CHST3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1546470	NM_004273.5(CHST3):c.111C>T (p.Phe37=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1156567	NM_004273.5(CHST3):c.114C>T (p.Ile38=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1406214	NM_004273.5(CHST3):c.133A>T (p.Ile45Leu)	CHST3 (I45L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2973905	NM_004273.5(CHST3):c.141-17C>T	CHST3	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2183414	NM_004273.5(CHST3):c.141-14C>T	CHST3	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2707124	NM_004273.5(CHST3):c.162G>C (p.Gln54His)	CHST3 (Q54H)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1536609	NM_004273.5(CHST3):c.168C>G (p.Pro56=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2189675	NM_004273.5(CHST3):c.175C>T (p.Leu59=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1491709	NM_004273.5(CHST3):c.182A>G (p.Asp61Gly)	CHST3 (D61G)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 878863	NM_004273.5(CHST3):c.195C>T (p.Thr65=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GConflicting classifications of pathogenicity
Select item 1358925	NM_004273.5(CHST3):c.196G>A (p.Asp66Asn)	CHST3 (D66N)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2013758	NM_004273.5(CHST3):c.201A>T (p.Pro67=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 290059	NM_004273.5(CHST3):c.202G>A (p.Ala68Thr)	CHST3 (A68T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1458337	NM_004273.5(CHST3):c.238del (p.Ser79_Leu80insTer)	CHST3	Deletion (nonsense)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 2017805	NM_004273.5(CHST3):c.243C>T (p.Ser81=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 300556	NM_004273.5(CHST3):c.244G>A (p.Glu82Lys)	CHST3 (E82K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +3 more	GUncertain significance
Select item 2859830	NM_004273.5(CHST3):c.255A>T (p.Ser85=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2055024	NM_004273.5(CHST3):c.268C>T (p.Leu90Phe)	CHST3 (L90F)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GUncertain significance
Select item 964544	NM_004273.5(CHST3):c.269T>C (p.Leu90Pro)	CHST3 (L90P)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GUncertain significance
Select item 1445618	NM_004273.5(CHST3):c.271C>T (p.Gln91Ter)	CHST3 (Q91*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 300557	NM_004273.5(CHST3):c.276C>A (p.Ser92Arg)	CHST3 (S92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2892357	NM_004273.5(CHST3):c.279T>C (p.Arg93=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1020950	NM_004273.5(CHST3):c.295T>A (p.Leu99Met)	CHST3 (L99M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2174485	NM_004273.5(CHST3):c.296T>C (p.Leu99Ser)	CHST3 (L99S)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 747688	NM_004273.5(CHST3):c.306C>A (p.Gly102=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 300558	NM_004273.5(CHST3):c.306C>T (p.Gly102=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GConflicting classifications of pathogenicity
Select item 1989775	NM_004273.5(CHST3):c.307G>A (p.Val103Met)	CHST3 (V103M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 196376	NM_004273.5(CHST3):c.311A>G (p.Glu104Gly)	CHST3 (E104G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 969495	NM_004273.5(CHST3):c.313C>G (p.Pro105Ala)	CHST3 (P105A)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2194067	NM_004273.5(CHST3):c.316G>A (p.Ala106Thr)	CHST3 (A106T)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1384426	NM_004273.5(CHST3):c.320T>A (p.Met107Lys)	CHST3 (M107K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1965065	NM_004273.5(CHST3):c.322G>A (p.Glu108Lys)	CHST3 (E108K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2001538	NM_004273.5(CHST3):c.327C>T (p.Ala109=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1939972	NM_004273.5(CHST3):c.328G>A (p.Ala110Thr)	CHST3 (A110T)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1414025	NM_004273.5(CHST3):c.334G>A (p.Glu112Lys)	CHST3 (E112K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1039079	NM_004273.5(CHST3):c.334G>T (p.Glu112Ter)	CHST3 (E112*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 1429973	NM_004273.5(CHST3):c.340G>C (p.Glu114Gln)	CHST3 (E114Q)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1370268	NM_004273.5(CHST3):c.347A>G (p.Glu116Gly)	CHST3 (E116G)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1570116	NM_004273.5(CHST3):c.348G>A (p.Glu116=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 300559	NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)	CHST3 (E116D)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +4 more	GConflicting classifications of pathogenicity
Select item 2788403	NM_004273.5(CHST3):c.360G>A (p.Glu120=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1406206	NM_004273.5(CHST3):c.362dup (p.Glu122fs)	CHST3 (E122fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 2173003	NM_004273.5(CHST3):c.368C>T (p.Pro123Leu)	CHST3 (P123L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2028477	NM_004273.5(CHST3):c.375_378dup (p.Ala127fs)	CHST3 (A127fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 2154553	NM_004273.5(CHST3):c.377C>T (p.Pro126Leu)	CHST3 (P126L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1521785	NM_004273.5(CHST3):c.377C>A (p.Pro126Gln)	CHST3 (P126Q)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2748878	NM_004273.5(CHST3):c.378G>C (p.Pro126=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2727367	NM_004273.5(CHST3):c.378G>T (p.Pro126=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1548203	NM_004273.5(CHST3):c.381C>T (p.Ala127=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1644263	NM_004273.5(CHST3):c.382G>C (p.Val128Leu)	CHST3 (V128L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2730517	NM_004273.5(CHST3):c.384G>A (p.Val128=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2906097	NM_004273.5(CHST3):c.386C>A (p.Ala129Glu)	CHST3 (A129E)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2174789	NM_004273.5(CHST3):c.386C>T (p.Ala129Val)	CHST3 (A129V)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 300560	NM_004273.5(CHST3):c.394C>G (p.Arg132Gly)	CHST3 (R132G)	Single nucleotide variant (missense variant)	Larsen syndrome +3 more	GUncertain significance
Select item 2153837	NM_004273.5(CHST3):c.395G>A (p.Arg132Gln)	CHST3 (R132Q)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1393967	NM_004273.5(CHST3):c.398G>A (p.Arg133His)	CHST3 (R133H)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 196378	NM_004273.5(CHST3):c.417C>T (p.Ala139=)	CHST3	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 6048	NM_004273.5(CHST3):c.422C>T (p.Thr141Met)	CHST3 (T141M)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 742648	NM_004273.5(CHST3):c.423G>A (p.Thr141=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GConflicting classifications of pathogenicity
Select item 1471445	NM_004273.5(CHST3):c.430G>A (p.Gly144Ser)	CHST3 (G144S)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GConflicting classifications of pathogenicity
Select item 2088593	NM_004273.5(CHST3):c.434C>T (p.Ser145Phe)	CHST3 (S145F)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1963485	NM_004273.5(CHST3):c.442G>T (p.Val148Leu)	CHST3 (V148L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2175291	NM_004273.5(CHST3):c.445G>A (p.Gly149Ser)	CHST3 (G149S)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1360612	NM_004273.5(CHST3):c.447C>T (p.Gly149=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 943643	NM_004273.5(CHST3):c.449A>C (p.Glu150Ala)	CHST3 (E150A)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2885428	NM_004273.5(CHST3):c.465G>C (p.Gln155His)	CHST3 (Q155H)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GBenign
Select item 1402271	NM_004273.5(CHST3):c.466G>A (p.Gly156Ser)	CHST3 (G156S)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1981813	NM_004273.5(CHST3):c.467G>A (p.Gly156Asp)	CHST3 (G156D)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2156518	NM_004273.5(CHST3):c.469A>G (p.Asn157Asp)	CHST3 (N157D)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 6049	NM_004273.5(CHST3):c.475T>A (p.Phe159Ile)	CHST3 (F159I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1899129	NM_004273.5(CHST3):c.480C>T (p.Tyr160=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1644536	NM_004273.5(CHST3):c.486C>T (p.Phe162=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2052596	NM_004273.5(CHST3):c.492G>A (p.Pro164=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2002093	NM_004273.5(CHST3):c.505G>A (p.Glu169Lys)	CHST3 (E169K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 632140	NM_004273.5(CHST3):c.512_513del (p.Thr171fs)	CHST3 (T171fs)	Microsatellite (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GConflicting classifications of pathogenicity
Select item 1167847	NM_004273.5(CHST3):c.513A>G (p.Thr171=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GBenign
Select item 445944	NM_004273.5(CHST3):c.518C>T (p.Ser173Phe)	CHST3 (S173F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1914167	NM_004273.5(CHST3):c.527C>T (p.Pro176Leu)	CHST3 (P176L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 432012	NM_004273.5(CHST3):c.533dup (p.Ala179fs)	CHST3 (A179fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1088427	NM_004273.5(CHST3):c.528G>A (p.Pro176=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 2176177	NM_004273.5(CHST3):c.530G>C (p.Gly177Ala)	CHST3 (G177A)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2821233	NM_004273.5(CHST3):c.534C>T (p.Gly178=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely benign
Select item 1987514	NM_004273.5(CHST3):c.535G>A (p.Ala179Thr)	CHST3 (A179T)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 1463708	NM_004273.5(CHST3):c.538A>T (p.Asn180Tyr)	CHST3 (N180Y)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance

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